Download diagnostic-odyssey-tandf-group-terms-of-reference

UK STRATEGY FOR RARE DISEASES
DIAGNOSTIC ODYSSEY - TASK AND FINISH GROUP
Terms of Reference
Purpose
As described in the document agreed by the UK Rare Diseases Forum ‘Operational
Principles for the UK Rare Diseases Policy Board’, the Policy Board will commission
task and finish groups to take forward specific projects pertinent to the UK Strategy
for Rare Diseases. Issues to be taken forward by task and finish groups must
support either the implementation of one or more recommendations in the UK
Strategy or an issue related to science, research or healthcare in the field of rare
diseases.
The Diagnostic Odyssey Task and Finish Group will engage relevant DH policy
officials and stakeholders to establish a process that will measure the time travelled
in the diagnostic pathway for patients with particular rare diseases.
Scope
The group will use the following three disorders as exemplars:



Bardet-Biedl Syndrome
Tuberous Sclerosis
ANCA - vasculitis
to identify point or points related to reliable clinical diagnosis as recorded in the
generally accessible clinical records. In some but not all cases the diagnosis will be
based on a molecular or laboratory diagnostic test. The project will then investigate
ways to explore the clinical history for these patients to reveal the journey from the
onset of symptoms until the point of diagnosis.
The foundation for the research should be provided by available NHS data resources
including primary care and other data sources such as rare disease registries,
specialist department databases, Clinical Practice Research Datalink (CPRD) and
patient/parent survey data. The group will note areas where a form of cost/benefit
analysis for supplementary datasets would be needed to justify a strategy for
widespread implementation. The capacity to collect identified data requirements from
routine information sources in an automated manner will also be assessed.
The project will consider the Health & Social Care Information Centre (HSCIC)
requirements for measuring the diagnostic odyssey as a potential measurable
clinical outcome and the proposed requirements for PHE’s National Congenital
Anomaly and Rare Disease Registration Service (NCARDRS).
The project will generate a number of disease-specific pathways leading to clinical
diagnosis that will provide a scale to assess the diagnostic odyssey for the selected
disorders/conditions. These pathways will identify the useful and collectively
available data points that can be used to describe different diagnostic pathways
Method
To engage with and keep the relevant groups informed of progress highlighting
progress and challenges of developing ways to assess patient diagnostic pathways.
These groups include; Medical Clinical Genetics Clinical Reference Group (CRG)
clinicians, scientists and researchers.
To understand what data can be retrospectively obtained from NHS Digital or
NCARDRS for a small pilot cohort consisting of two groups of approximately 10
patients for the chosen disorders.
To use a system-based approach to data collection to examine the depth of
information recorded on NHS and NCARDRS systems within the care pathway
including GP records, Hospital Episode Statistics and the Clinical Practice Research
Datalink to assess the viability of routine systematic data collection.
Use the information obtained to establish disease-specific pathways leading to
clinical diagnosis based on the essential and accessible information can be
highlighted. These pathways will provide a scale against which variations and delays
could be assessed.
Timescales
This Task and Finish Group will report its findings to the UK Rare Diseases Policy
Board within 12 months.
Outputs
Make recommendations to the UK Rare Diseases Policy Board on measuring the
time diagnostic pathway, including the use of retrospective data
interrogation/collection.
Membership of Task and Finish Group
Trevor Cole – Chair
Jacquie Westwood - UK Genetic Testing Network
Frances Elmslie - Medical Genetics CRG
Angus Dobbie – Yorkshire Regional Genetics Service
Ann Dalton – Sheffield Diagnostic Genetics Service
Dominic McMullan - ACGS
Peter Lanyon – British Society for Rheumatology
Shehla Mohammed – UKGTN Expert Adviser
Mark Kroese – UKGTN Expert Adviser
Fiona Macdonald – UKGTN Expert Adviser
Jane Deller - UKGTN
Julie Henderson – NHS Digital
Monika Preuss – Department of Health
Sarah Stevens – NCARDRS, Public Health England
Sarah Watson – NHS England Highly Specialised Commissioning
Jayne Spink – Genetic Alliance UK